Variant report

Variant	rs531589490
Chromosome Location	chr8:119448013-119448014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	esv2467119	chr8:119446418-119448043	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	nsv519793	chr8:119447420-119448268	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119434800-119451800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:119442200-119449200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:119445400-119448600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:119445600-119450600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:119446000-119450000	Weak transcription	NHDF-Ad	bronchial
6	chr8:119446000-119450800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:119446200-119450400	Weak transcription	Osteobl	bone
8	chr8:119446400-119449600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:119446400-119450400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:119446400-119451000	Weak transcription	NHLF	lung
11	chr8:119446800-119452200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:119446800-119452200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:119447000-119452200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:119447400-119450800	Weak transcription	GM12878-XiMat	blood
15	chr8:119447600-119448400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:119447800-119450200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr8:119448000-119449200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:119448000-119452000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:119448000-119456200	Enhancers	HUVEC	blood vessel

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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